(Q42621007)

3 November 2017

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy (English)

1 reference

3 November 2017

Usher syndrome type 2

1 reference

1 reference

Thomas Besnard

2

0 references

David Baux

object named as

David Baux

5

0 references

Mireille Claustres

13

object named as

Mireille Claustres

1 reference

3 November 2017

Christel Vaché

1

1 reference

3 November 2017

Pauline le Berre

3

1 reference

3 November 2017

Gema García-García

4

1 reference

3 November 2017

Lise Larrieu

6

1 reference

3 November 2017

Caroline Abadie

7

1 reference

3 November 2017

Catherine Blanchet

8

1 reference

3 November 2017

Hanno Jörn Bolz

9

1 reference

3 November 2017

Jose Millan

10

1 reference

3 November 2017

Christian Hamel

11

1 reference

3 November 2017

Sue Malcolm

12

1 reference

3 November 2017

Anne-Françoise Roux

14

1 reference

3 November 2017

16 November 2011

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3 November 2017

1 reference

3 November 2017

33

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3 November 2017

1

1 reference

3 November 2017

104-108

1 reference

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

3 November 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Identification of novel USH2A mutations: implications for the structure of USH2A protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Nanotechnologies and controlled release systems for the delivery of antisense oligonucleotides and small interfering RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

The challenge of documenting mutation across the genome: the human genome variation society approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Present and future of antisense therapy for splicing modulation in inherited metabolic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

7 January 2021

inferred from DOI database lookup

Four-Year Follow-up of Diagnostic Service in USH1 Patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

7 January 2021

inferred from DOI database lookup

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21634

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.21634

1 reference

release_3jopc5uz5ncsjdjp5k7t5ftiuy

3 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3jopc5uz5ncsjdjp5k7t5ftiuy

24 November 2022

mapped directly with Wikidata item

1 reference